ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.759+16_759+18dup

gnomAD frequency: 0.08796  dbSNP: rs398088143
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283038 SCV000381242 benign Pseudohypoaldosteronism type 2A 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288600 SCV001475848 benign not specified 2018-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001675796 SCV001894135 benign not provided 2019-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056334 SCV002409649 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002056334 SCV002794641 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-10-06 criteria provided, single submitter clinical testing

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